Incidental Mutation 'R5337:Grik1'
| ID |
423594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik1
|
| Ensembl Gene |
ENSMUSG00000022935 |
| Gene Name |
glutamate receptor, ionotropic, kainate 1 |
| Synonyms |
Glur-5, GluK5, A830007B11Rik, Glurbeta1, D16Ium24, D16Ium24e, Glur5 |
| MMRRC Submission |
042917-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5337 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CGG to CGGG
at 87720082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023652]
[ENSMUST00000072256]
[ENSMUST00000114137]
[ENSMUST00000211444]
[ENSMUST00000227986]
[ENSMUST00000228034]
[ENSMUST00000228188]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023652
|
| SMART Domains |
Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
14 |
357 |
4.7e-69 |
PFAM |
|
Pfam:Peripla_BP_6
|
48 |
347 |
5.1e-11 |
PFAM |
|
PBPe
|
394 |
762 |
2.4e-130 |
SMART |
|
Lig_chan-Glu_bd
|
404 |
468 |
6.34e-31 |
SMART |
|
Blast:PBPe
|
770 |
815 |
2e-16 |
BLAST |
|
low complexity region
|
829 |
850 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000072256
|
| SMART Domains |
Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
14 |
357 |
2.6e-72 |
PFAM |
|
Pfam:Peripla_BP_6
|
49 |
347 |
3.4e-10 |
PFAM |
|
PBPe
|
394 |
762 |
2.4e-130 |
SMART |
|
Lig_chan-Glu_bd
|
404 |
468 |
6.34e-31 |
SMART |
|
Blast:PBPe
|
770 |
817 |
1e-17 |
BLAST |
|
low complexity region
|
858 |
879 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114137
|
| SMART Domains |
Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
1 |
325 |
5.4e-63 |
PFAM |
|
Pfam:Peripla_BP_6
|
18 |
315 |
5.1e-11 |
PFAM |
|
PBPe
|
362 |
730 |
2.4e-130 |
SMART |
|
Lig_chan-Glu_bd
|
372 |
436 |
6.34e-31 |
SMART |
|
Blast:PBPe
|
738 |
783 |
2e-16 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210700
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211444
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227986
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228034
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228188
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display subtile abnormalities in the electrophysiology of neurons in the brain. Response to chemical pain stimuli is also reduced. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd15 |
T |
A |
11: 77,409,665 (GRCm39) |
|
probably null |
Het |
| Akap8l |
A |
G |
17: 32,555,368 (GRCm39) |
M237T |
possibly damaging |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Api5 |
G |
T |
2: 94,256,033 (GRCm39) |
A218E |
possibly damaging |
Het |
| Bltp2 |
T |
A |
11: 78,156,034 (GRCm39) |
I182N |
possibly damaging |
Het |
| Cfap68 |
C |
A |
9: 50,677,049 (GRCm39) |
C14F |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,319,058 (GRCm39) |
D1336G |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,469,932 (GRCm39) |
R865W |
probably damaging |
Het |
| Cimip2b |
C |
T |
4: 43,427,687 (GRCm39) |
|
probably null |
Het |
| Cmya5 |
T |
C |
13: 93,219,781 (GRCm39) |
K3223E |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,455,299 (GRCm39) |
H448Q |
probably damaging |
Het |
| Cuzd1 |
A |
G |
7: 130,917,803 (GRCm39) |
Y266H |
probably damaging |
Het |
| Dnajc5b |
A |
T |
3: 19,628,946 (GRCm39) |
Y80F |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,740,844 (GRCm39) |
S915P |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 38,945,776 (GRCm39) |
D1556E |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,064,527 (GRCm39) |
T4828A |
probably benign |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gja3 |
T |
G |
14: 57,273,289 (GRCm39) |
D361A |
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,178,592 (GRCm39) |
E704G |
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,509,143 (GRCm39) |
E485G |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,066,241 (GRCm39) |
V715A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnip1 |
T |
G |
11: 33,592,389 (GRCm39) |
|
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,098,881 (GRCm39) |
S1390P |
probably damaging |
Het |
| Lrrc61 |
G |
A |
6: 48,545,308 (GRCm39) |
V44M |
probably damaging |
Het |
| Map3k4 |
G |
T |
17: 12,490,497 (GRCm39) |
N311K |
probably damaging |
Het |
| Mgat5 |
T |
C |
1: 127,387,658 (GRCm39) |
F538S |
possibly damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Ndst1 |
A |
T |
18: 60,823,079 (GRCm39) |
L829Q |
probably damaging |
Het |
| Neto1 |
A |
T |
18: 86,416,434 (GRCm39) |
H47L |
probably benign |
Het |
| Or10ak11 |
T |
C |
4: 118,686,863 (GRCm39) |
Y258C |
probably benign |
Het |
| Or10p22 |
A |
G |
10: 128,826,548 (GRCm39) |
T256A |
probably benign |
Het |
| Or51r1 |
T |
C |
7: 102,228,481 (GRCm39) |
S260P |
probably damaging |
Het |
| Or5p61 |
A |
T |
7: 107,758,480 (GRCm39) |
V200D |
probably benign |
Het |
| Or6c214 |
A |
T |
10: 129,590,403 (GRCm39) |
C305* |
probably null |
Het |
| Pds5b |
T |
C |
5: 150,717,062 (GRCm39) |
F1120L |
probably benign |
Het |
| Phkb |
A |
G |
8: 86,604,874 (GRCm39) |
Y93C |
probably damaging |
Het |
| Pilra |
C |
T |
5: 137,834,032 (GRCm39) |
|
probably benign |
Het |
| Pmvk |
T |
C |
3: 89,375,878 (GRCm39) |
V146A |
probably benign |
Het |
| Proz |
T |
A |
8: 13,116,854 (GRCm39) |
D135E |
probably benign |
Het |
| Psg23 |
A |
T |
7: 18,345,997 (GRCm39) |
W233R |
probably benign |
Het |
| Rgl2 |
A |
T |
17: 34,153,958 (GRCm39) |
I455F |
probably damaging |
Het |
| Rhpn1 |
A |
G |
15: 75,580,054 (GRCm39) |
Q39R |
probably benign |
Het |
| Rims4 |
T |
G |
2: 163,707,763 (GRCm39) |
M100L |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,430,963 (GRCm39) |
|
probably benign |
Het |
| Slfn4 |
T |
C |
11: 83,080,055 (GRCm39) |
F189L |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Tmem127 |
T |
C |
2: 127,098,065 (GRCm39) |
Y129H |
probably damaging |
Het |
| Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
| Trpc3 |
A |
T |
3: 36,692,519 (GRCm39) |
|
probably benign |
Het |
| Tsga10ip |
A |
T |
19: 5,444,363 (GRCm39) |
S23T |
probably benign |
Het |
| Tut7 |
G |
A |
13: 59,939,666 (GRCm39) |
T695I |
probably damaging |
Het |
| Uspl1 |
T |
C |
5: 149,151,556 (GRCm39) |
S720P |
probably damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,113,641 (GRCm39) |
D211G |
probably damaging |
Het |
| Zswim4 |
G |
A |
8: 84,961,708 (GRCm39) |
P55L |
probably damaging |
Het |
|
| Other mutations in Grik1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01143:Grik1
|
APN |
16 |
87,754,488 (GRCm39) |
splice site |
probably null |
|
|
IGL01347:Grik1
|
APN |
16 |
87,754,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01612:Grik1
|
APN |
16 |
87,743,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02010:Grik1
|
APN |
16 |
87,848,396 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02059:Grik1
|
APN |
16 |
87,852,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02068:Grik1
|
APN |
16 |
87,737,539 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02200:Grik1
|
APN |
16 |
87,737,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02206:Grik1
|
APN |
16 |
87,732,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02375:Grik1
|
APN |
16 |
87,743,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02598:Grik1
|
APN |
16 |
87,744,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02686:Grik1
|
APN |
16 |
87,806,649 (GRCm39) |
splice site |
probably null |
|
|
IGL02890:Grik1
|
APN |
16 |
87,693,690 (GRCm39) |
intron |
probably benign |
|
|
R0096:Grik1
|
UTSW |
16 |
87,831,114 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0096:Grik1
|
UTSW |
16 |
87,831,114 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0387:Grik1
|
UTSW |
16 |
87,831,238 (GRCm39) |
splice site |
probably benign |
|
|
R0613:Grik1
|
UTSW |
16 |
87,848,221 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1087:Grik1
|
UTSW |
16 |
87,803,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1694:Grik1
|
UTSW |
16 |
87,746,956 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1905:Grik1
|
UTSW |
16 |
87,693,754 (GRCm39) |
nonsense |
probably null |
|
|
R1928:Grik1
|
UTSW |
16 |
87,848,241 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2157:Grik1
|
UTSW |
16 |
87,853,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3122:Grik1
|
UTSW |
16 |
87,803,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3906:Grik1
|
UTSW |
16 |
87,803,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4194:Grik1
|
UTSW |
16 |
87,743,616 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4343:Grik1
|
UTSW |
16 |
87,693,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4349:Grik1
|
UTSW |
16 |
87,754,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4416:Grik1
|
UTSW |
16 |
87,848,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4423:Grik1
|
UTSW |
16 |
87,720,088 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4660:Grik1
|
UTSW |
16 |
87,720,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Grik1
|
UTSW |
16 |
87,754,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5052:Grik1
|
UTSW |
16 |
87,746,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5126:Grik1
|
UTSW |
16 |
87,744,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5334:Grik1
|
UTSW |
16 |
87,720,082 (GRCm39) |
frame shift |
probably null |
|
|
R5335:Grik1
|
UTSW |
16 |
87,720,082 (GRCm39) |
frame shift |
probably null |
|
|
R5479:Grik1
|
UTSW |
16 |
87,732,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6141:Grik1
|
UTSW |
16 |
87,693,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6188:Grik1
|
UTSW |
16 |
87,852,959 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6335:Grik1
|
UTSW |
16 |
87,744,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6610:Grik1
|
UTSW |
16 |
87,831,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Grik1
|
UTSW |
16 |
87,848,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7275:Grik1
|
UTSW |
16 |
87,709,708 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7876:Grik1
|
UTSW |
16 |
87,720,121 (GRCm39) |
missense |
|
|
|
R8021:Grik1
|
UTSW |
16 |
87,711,110 (GRCm39) |
missense |
|
|
|
R8027:Grik1
|
UTSW |
16 |
87,732,893 (GRCm39) |
missense |
|
|
|
R8096:Grik1
|
UTSW |
16 |
87,803,355 (GRCm39) |
missense |
|
|
|
R8266:Grik1
|
UTSW |
16 |
87,744,867 (GRCm39) |
missense |
probably benign |
|
|
R8515:Grik1
|
UTSW |
16 |
87,720,170 (GRCm39) |
nonsense |
probably null |
|
|
R8922:Grik1
|
UTSW |
16 |
87,693,167 (GRCm39) |
missense |
unknown |
|
|
R9097:Grik1
|
UTSW |
16 |
87,732,796 (GRCm39) |
missense |
|
|
|
R9125:Grik1
|
UTSW |
16 |
87,852,956 (GRCm39) |
missense |
|
|
|
R9273:Grik1
|
UTSW |
16 |
87,848,379 (GRCm39) |
missense |
|
|
|
R9286:Grik1
|
UTSW |
16 |
87,848,315 (GRCm39) |
missense |
|
|
|
R9491:Grik1
|
UTSW |
16 |
87,746,995 (GRCm39) |
missense |
|
|
|
RF016:Grik1
|
UTSW |
16 |
87,831,074 (GRCm39) |
missense |
|
|
|
RF022:Grik1
|
UTSW |
16 |
87,693,225 (GRCm39) |
missense |
|
|
|
X0018:Grik1
|
UTSW |
16 |
87,743,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Grik1
|
UTSW |
16 |
87,743,572 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACTTGTAATCAACATCGCCCC -3'
(R):5'- ATTCCCACGCACAGAGAGTTTC -3'
Sequencing Primer
(F):5'- GCCCCAACTTAGCCTTGG -3'
(R):5'- TTTGACCCACTAGGATGATGAACAGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation